A recent letter in Nature revealed some interesting findings about Pseudohypoaldosteronism type II (PHAII), a rare syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. The authors used exome sequencing to identify recessive or dominant mutations in kelch-like 3 (KLHL3) or dominant mutations in cullin 3 (CUL3) in PHAII patients from 41 unrelated families. KLH3 and CUL3 are expressed in the distal nephron perhaps why this allows for the features we see in this syndrome. When given thiazides, the disease features were reversed.
This letter showed that a novel way of exome sequencing could diagnosis new mutations that lead to hypertension.
Check out the full letter at:
http://www.ncbi.nlm.nih.gov/pubmed/22266938
Great article. They also used whole exome sequencing earlier to find some interesting novel mutations in Kir channels that can result in adrenal adenomas leading to primary hyperaldosteronism. Pretty interesting!
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